中国部分汉族人群GH1基因启动子区单核苷酸多态性与正常人群身高的关系

Association between single nucleotide polymorphism of GH1 gene proximal promoter region and adult height in partial Chinese Han population

目的研究中国部分汉族人群GH1基因启动子近侧区域内的单核苷酸多态性(SNP)与人体身高调控的关系。方法采用直接测序法进行SNP检测,Logistic回归分析筛查可能与身高相关的基因多态性位点。分别构建所发现的GH1基因启动子区的-308T和-57G突变位点的pGL4荧光素酶报告基因载体,转染入GC细胞后进行双荧光素酶检测分析。结果中国部分汉族人群GH1基因启动子近侧区域中存在12个SNP,有6个位点多态性的发生频率与白种人存在明显差异(P<0.01)。荧光素酶检测结果示野生型荧光表达量高于-57和-308位点突变型,差异有统计学意义(P<0.01)。结论GH1基因启动子邻近区域在中国部分汉族人群中表现出高度多态性,并存在一定的人种差异,其中有两处SNP可能影响到人群的身材高矮。

Objective To investigate the association between single nucleotide polymorphism （SNP） of the GH1 gene proximal promoter region and regulation of adult height in partial Chinese Han population. Methods Identification of SNPs was performed by direct DNA sequencing, and Logistic regression was used to screen the possible sites relevant to adult height. According to the result, two pGL4 luciferase reporter gene expression vectors which contained -57G and -308T site mutation were respectively transiently transfected into the GC cell and analyzed by the dual-luciferase assay. Results Twelve SNPs were found in the GH1 gene proximal promoter region in partial Chinese Han population, 6 of which exhibited significantly different frequency from Caucasians（P 〈0.01）. It was revealed by dual-luciferase assay that the amount of fluorescence in the wild type was significantly higher than that in - 57 or - 308 site mutant （P 〈 0.01）. Conclusion The GH1 gene proximal promoter region in partial Chinese Han population is highly polymorphic and exhibites differences among races, and two SNPs may contribute to the human height.